Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study. [electronic resource]
Producer: 19850430Description: 85-93 p. digitalISSN:- 0014-3022
- Adolescent
- Atrophy
- Cerebellum -- pathology
- Diagnosis, Differential
- Electromyography
- Female
- Humans
- Microscopy, Electron
- Motor Neurons -- physiology
- Muscles -- innervation
- Nerve Fibers, Myelinated -- ultrastructure
- Neural Conduction
- Pedigree
- Peroneal Nerve -- pathology
- Phenotype
- Phytanic Acid -- metabolism
- Refsum Disease -- genetics
- Tomography, X-Ray Computed
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Publication Type: Case Reports; Journal Article
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